Submission Details

Submitter:

Classification:
Strong
GENCC:100002
Gene:
Disease:
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
12/15/2018
PubMed IDs:
23236339 28236339 28554332 28650581 28905505 29120065 31970218 34890876
Assertion Criteria:
Submitter Submitted Date:
11/30/2023

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